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Article

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.

The British journal of dermatology - 1 Mar 2008

Thomas A C, Sinclair C, Mahmud N, Cullup T, Mellerio J E, Harper J, Dale B A, Turc-Carel C, Hohl D, McGrath J A, Vahlquist A, Hellstrom-Pigg M, Ganemo A, Metcalfe K, Mein C A, O'Toole E A, Kelsell D P

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Share to ATP-Binding Cassette Transporters
Share to DNA Mutational Analysis
Share to Ichthyosis, Lamellar

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17986308
DOI: 10.1111/j.1365-2133.2007.08277.x

Genes

ABCA12

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis.PMID 17986308Read ↗

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Novel ABCA12 splice site deletion mutation and ABCA12 mRNA analysis of pulled hair samples in harlequin ichthyosis.Semantic proximity Read ↗

Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653-5655delTAT, causing harlequin ichthyosis.Semantic proximity Read ↗

Compound heterozygous mutations with novel missense ABCA12 mutation in harlequin ichthyosis.Semantic proximity Read ↗

Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12.Semantic proximity Read ↗

Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants.Semantic proximity Read ↗

Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation.Semantic proximity Read ↗

Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.Semantic proximity Read ↗

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